Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

Table 2 Prevalence of CDH23 mutations in East Asian

Characteristics	Study1	Study2	Study3,4
Ethnicity	Korean	Korean	Japan
Onset of hearing loss	Prelingual	Early onset	Pre & postlingual
Inheritance	AR, or sporadic	AR	AR, or sporadic
Degree of hearing loss	Severe-to-profound	Severe-to-profound	Various
Syndromic/nonsyndromic	Nonsyndromic	Nonsyndromic No GJB2 and SLC26A4 mutations	Nonsyndromic
Frequency of CDH23 mutations	3.13 (4/128) 4.82 (4/83)^a	15.38 (2/13)	3.72 (52/1396)^b (33, postlingual, 19, prelingual) 1.6 (23/1396)^c 2.5 (23/919)^d
Frequency of p.P240L alleles
Affected	2.34 (6/256)	7.69 (2/26)	1.61 (45/2792)
Control	0 (0/544)	0.12 (2/1636)	0.26 (1/384)
Affected (in CDH23 mutations)	85.71 (6/8)	50.00 (2/4)	60.01 (45/2792)
References	This study	[18]	[19] [24]

AR autosomal recessive inheritance.
^aThe prevalence of CDH23 mutations when excluding the subjects with GJB2 or SLC26A4 mutations.
^bThe prevalence of CDH23 mutations with 10 homozygote, 13 compound heterozygote, excluding single heterozygote cases, 29 heterozygote.
^cThe prevalence of CDH23 mutations with 10 homozygote, 13 compound heterozygote.
^dThe prevalence of CDH23 mutations in autosomal recessive subjects, excluding sporadic cases.

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